DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909088
rs121909088
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.800 GeneticVariation UNIPROT Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 19623537 2009
dbSNP: rs121909088
rs121909088
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		0.800 GeneticVariation UNIPROT Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758 2005
dbSNP: rs121909088
rs121909088
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C1847902
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 		G 0.800 CausalMutation CLINVAR